Updated analysis of pathogenic variants in BRCA1/BRCA2 among the general Japanese population

TL;DR

This study analyzes BRCA1/BRCA2 genetic variants in a large Japanese population to better understand the risk of hereditary breast and ovarian cancers.

Contribution

The study provides updated allele frequencies of BRCA1/BRCA2 pathogenic variants in the Japanese population using a larger dataset.

Findings

The 60KJPN dataset revealed updated frequencies of BRCA1/BRCA2 pathogenic variants.

Comparisons with the 54KJPN dataset showed changes in variant frequencies over time.

The findings may help improve cancer prevention strategies in Japan.

Abstract

Recently, the Tohoku Medical Megabank Organization released whole-genome allele frequencies of single-nucleotide variants and indels from approximately 60,000 individuals from the general Japanese population in the Tohoku region (60KJPN). Here we analyzed the 60KJPN dataset for BRCA1/BRCA2 variants and compared them with the previous version, 54KJPN, to ascertain the frequency of hereditary breast and ovarian cancers in the general Japanese population. We hope that these results will contribute to strategies for cancer prevention.